Link to the Reference Paper. The accession number of this mRNA is U84007
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in AGL.
These include potential cryptic splice sites.
Donor: sites found that alter the information content of donorsites
Acceptor: sites found that alter the information content of acceptor sites
Unparsable Inconsistencies between the described mutation and the human genome reference sequence, "presently not posted"
Total: sites found that alter the information ocontent of both acceptor and donor sites are listed according to the mutation
Original: : Original Mutation Table
References: MUTATION IN BRIEF HUMAN MUTATION Mutation in Brief #564 (2002) O nline Molecular Characterisation of GSD III Subjects and Identification of Six Novel Mutations in AGL S. Lucchiari 1, M.A. Donati 2, R. Parini 3, D. Melis 4, R. Gatti 5, N. Bresolin 1,6, G. Scarlato 1, and G.P. Comi 1 1 Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Policlinico, Milan, Italy; 2 Meyer Children s Hospital, Section of Metabolic Diseases, Florence, Italy; 3 De Marchi Children s Clinic, I.C.P., Milano, Italy; 4 Children s Clinic, University Federico II of Naples, Italy; 5 G. Gaslini Children s Insitute, Genova, Italy; 6 IRCCS E. Medea, Associazione La Nostra Famiglia. Bosisio Parini (LC), Italy
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